Mutagenetix > Incidental Mutation

Incidental Mutation 'R0972:Mov10l1'

82899

Institutional Source

Beutler Lab

Gene Symbol

Mov10l1

Ensembl Gene

ENSMUSG00000015365

Gene Name

Mov10 like RISC complex RNA helicase 1

Synonyms

CHAMP, Csm

MMRRC Submission

039101-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.222) question?

Stock #

R0972 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88867112-88939355 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88905482 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 879 (V879A)

Ref Sequence

ENSEMBL: ENSMUSP00000118437 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015509] [ENSMUST00000146993]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000015509
AA Change: V827A

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000015509
Gene: ENSMUSG00000015365
AA Change: V827A

Domain	Start	End	E-Value	Type
low complexity region	52	65	N/A	INTRINSIC
low complexity region	338	349	N/A	INTRINSIC
Blast:AAA	444	526	2e-7	BLAST
internal_repeat_1	615	651	5.23e-10	PROSPERO
internal_repeat_1	648	696	5.23e-10	PROSPERO
Pfam:AAA_11	746	852	1.4e-17	PFAM
Pfam:AAA_30	746	933	5e-11	PFAM
Pfam:AAA_19	754	826	1.5e-10	PFAM
Pfam:AAA_11	855	928	1.3e-18	PFAM
Pfam:AAA_12	935	1152	3.7e-44	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000082547

Predicted Effect

probably benign
Transcript: ENSMUST00000143030

SMART Domains

Protein: ENSMUSP00000134200
Gene: ENSMUSG00000015365

Domain	Start	End	E-Value	Type
Pfam:AAA_11	2	51	1e-14	PFAM
Pfam:AAA_12	58	275	5.2e-45	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000146993
AA Change: V879A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000118437
Gene: ENSMUSG00000015365
AA Change: V879A

Domain	Start	End	E-Value	Type
low complexity region	104	117	N/A	INTRINSIC
low complexity region	390	401	N/A	INTRINSIC
Blast:AAA	496	578	2e-7	BLAST
internal_repeat_1	667	703	6.08e-10	PROSPERO
internal_repeat_1	700	748	6.08e-10	PROSPERO
Pfam:AAA_11	798	903	1e-15	PFAM
Pfam:AAA_30	798	985	1.8e-11	PFAM
Pfam:AAA_19	806	878	7e-11	PFAM
Pfam:AAA_11	907	980	3.2e-17	PFAM
Pfam:AAA_12	987	1204	1.4e-43	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148198

Meta Mutation Damage Score

0.0971

Coding Region Coverage

1x: 99.5%
3x: 99.0%
10x: 97.8%
20x: 96.3%

Validation Efficiency

97% (72/74)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is similar to a mouse gene that encodes a putative RNA helicase and shows testis-specific expression. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009]
PHENOTYPE: Mice homozygous for a targeted allele lacking the helicase domain exhibit male infertility due to meiotic arrest, apoptosis, and derepression of retrotransposons in male germ cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	G	A	8: 41,208,168 (GRCm39)	R478Q	probably damaging	Het
Adgrf5	A	T	17: 43,761,874 (GRCm39)	S1190C	probably damaging	Het
Akr1a1	T	C	4: 116,497,204 (GRCm39)		probably null	Het
Bco2	A	T	9: 50,447,615 (GRCm39)	D369E	probably benign	Het
Blm	A	T	7: 80,163,118 (GRCm39)	S78T	probably benign	Het
Brsk2	C	G	7: 141,547,441 (GRCm39)		probably benign	Het
Cct8	A	G	16: 87,283,508 (GRCm39)	V269A	possibly damaging	Het
Cdh12	A	T	15: 21,237,850 (GRCm39)	Q28H	probably benign	Het
Cep290	A	G	10: 100,354,624 (GRCm39)	T896A	probably benign	Het
Chrm2	T	A	6: 36,501,401 (GRCm39)	N419K	possibly damaging	Het
Clasp2	A	T	9: 113,676,773 (GRCm39)	H168L	possibly damaging	Het
Cog3	A	T	14: 75,954,610 (GRCm39)	M643K	probably benign	Het
Col6a5	A	G	9: 105,817,484 (GRCm39)	S276P	unknown	Het
Colgalt2	T	C	1: 152,347,495 (GRCm39)	V143A	probably damaging	Het
Cul9	C	G	17: 46,833,101 (GRCm39)	A1326P	probably damaging	Het
Cwc27	C	A	13: 104,797,865 (GRCm39)	E365*	probably null	Het
Ddx56	A	T	11: 6,217,718 (GRCm39)	M1K	probably null	Het
Dnah3	C	T	7: 119,634,563 (GRCm39)		probably null	Het
Dnah6	T	C	6: 73,136,176 (GRCm39)	T988A	possibly damaging	Het
Esp15	T	A	17: 39,953,557 (GRCm39)	F15I	possibly damaging	Het
Fam237b	T	A	5: 5,625,512 (GRCm39)	D69E	probably benign	Het
Fbh1	C	T	2: 11,768,899 (GRCm39)		probably benign	Het
Gucy1b2	A	T	14: 62,646,127 (GRCm39)	I572N	possibly damaging	Het
Gucy1b2	T	C	14: 62,651,818 (GRCm39)	I393V	possibly damaging	Het
H1f6	G	T	13: 23,880,307 (GRCm39)	K153N	possibly damaging	Het
Herc1	C	A	9: 66,279,427 (GRCm39)	R112S	probably damaging	Het
Itga7	G	A	10: 128,778,746 (GRCm39)	R291H	probably damaging	Het
Jag1	A	G	2: 136,925,371 (GRCm39)	L1077S	possibly damaging	Het
Klb	G	C	5: 65,506,089 (GRCm39)	R112P	possibly damaging	Het
Klrc2	T	C	6: 129,635,726 (GRCm39)	Y134C	probably damaging	Het
Map2k2	C	A	10: 80,955,482 (GRCm39)	D67E	probably benign	Het
Mest	G	A	6: 30,740,683 (GRCm39)	W14*	probably null	Het
Mier2	A	G	10: 79,380,455 (GRCm39)		probably benign	Het
Mog	A	G	17: 37,328,424 (GRCm39)	V169A	probably benign	Het
Mrgpra9	A	G	7: 46,885,203 (GRCm39)	S155P	probably damaging	Het
Mtmr10	A	G	7: 63,976,457 (GRCm39)	D418G	probably damaging	Het
Mtpn	T	C	6: 35,498,911 (GRCm39)	D58G	probably null	Het
Myh8	A	G	11: 67,188,585 (GRCm39)	R1056G	probably damaging	Het
Nek1	T	A	8: 61,542,465 (GRCm39)		probably null	Het
Or4k38	T	C	2: 111,165,763 (GRCm39)	Y220C	probably benign	Het
Or5al7	A	C	2: 85,992,648 (GRCm39)	L215R	possibly damaging	Het
Or8b36	T	A	9: 37,937,856 (GRCm39)	F251L	possibly damaging	Het
Pcnx1	G	A	12: 81,960,186 (GRCm39)	D181N	probably damaging	Het
Pdzrn4	A	G	15: 92,655,592 (GRCm39)	D495G	probably benign	Het
Plppr3	A	G	10: 79,700,920 (GRCm39)	S641P	probably damaging	Het
Pramel11	T	A	4: 143,623,533 (GRCm39)	T214S	probably benign	Het
Prelp	A	T	1: 133,842,414 (GRCm39)	Y244N	probably damaging	Het
Prg2	C	A	2: 84,812,393 (GRCm39)	N34K	probably benign	Het
Ptp4a1	A	G	1: 30,984,080 (GRCm39)	V46A	possibly damaging	Het
Rpl6	A	G	5: 121,346,565 (GRCm39)	D222G	possibly damaging	Het
Rtp1	A	T	16: 23,250,058 (GRCm39)	D141V	probably damaging	Het
Sacs	T	A	14: 61,449,412 (GRCm39)	Y3819*	probably null	Het
Serinc5	A	G	13: 92,825,128 (GRCm39)	T186A	probably benign	Het
Slc15a2	A	G	16: 36,577,501 (GRCm39)	S422P	probably benign	Het
Slc2a8	A	T	2: 32,865,379 (GRCm39)	V366D	probably benign	Het
Smarca1	T	C	X: 46,938,864 (GRCm39)	R715G	possibly damaging	Het
Spdef	C	T	17: 27,933,997 (GRCm39)	A275T	probably damaging	Het
Tcf21	T	C	10: 22,695,621 (GRCm39)	K61R	probably benign	Het
Tep1	A	G	14: 51,061,753 (GRCm39)		probably benign	Het
Thada	G	A	17: 84,736,490 (GRCm39)		probably benign	Het
Thap11	T	A	8: 106,582,810 (GRCm39)	I273N	probably damaging	Het
Tmem129	T	A	5: 33,812,112 (GRCm39)	E262V	possibly damaging	Het
Tnxb	A	G	17: 34,904,117 (GRCm39)	Y1086C	probably damaging	Het
Togaram2	A	G	17: 72,014,309 (GRCm39)	Y619C	probably damaging	Het
Top1	C	T	2: 160,562,945 (GRCm39)	A717V	probably damaging	Het
Trpm7	G	A	2: 126,646,969 (GRCm39)	P1507S	probably benign	Het
Ubr2	A	T	17: 47,245,187 (GRCm39)		probably null	Het
Usp30	T	C	5: 114,249,925 (GRCm39)		probably benign	Het
Vmn1r3	T	A	4: 3,185,125 (GRCm39)	I61F	probably damaging	Het
Zbtb22	C	T	17: 34,136,326 (GRCm39)	T157I	possibly damaging	Het
Zfp677	A	T	17: 21,618,572 (GRCm39)	H543L	probably damaging	Het
Zranb3	G	T	1: 127,884,383 (GRCm39)	P1001Q	probably damaging	Het

Other mutations in Mov10l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00955:Mov10l1	APN	15	88,879,192 (GRCm39)	missense	probably damaging	1.00
IGL01110:Mov10l1	APN	15	88,905,460 (GRCm39)	missense	probably benign	0.05
IGL01369:Mov10l1	APN	15	88,909,040 (GRCm39)	splice site	probably benign
IGL01531:Mov10l1	APN	15	88,938,555 (GRCm39)	missense	probably damaging	0.99
IGL01712:Mov10l1	APN	15	88,908,969 (GRCm39)	missense	probably damaging	0.98
IGL02330:Mov10l1	APN	15	88,910,693 (GRCm39)	missense	probably damaging	1.00
IGL02540:Mov10l1	APN	15	88,902,414 (GRCm39)	missense	probably benign
IGL02938:Mov10l1	APN	15	88,872,729 (GRCm39)	missense	probably damaging	1.00
R0382:Mov10l1	UTSW	15	88,869,796 (GRCm39)	missense	possibly damaging	0.96
R0437:Mov10l1	UTSW	15	88,889,515 (GRCm39)	missense	probably damaging	0.96
R0504:Mov10l1	UTSW	15	88,883,042 (GRCm39)	missense	probably damaging	1.00
R0538:Mov10l1	UTSW	15	88,879,063 (GRCm39)	missense	possibly damaging	0.73
R0577:Mov10l1	UTSW	15	88,889,930 (GRCm39)	missense	probably damaging	1.00
R0592:Mov10l1	UTSW	15	88,882,969 (GRCm39)	critical splice acceptor site	probably null
R1386:Mov10l1	UTSW	15	88,895,589 (GRCm39)	missense	possibly damaging	0.87
R1737:Mov10l1	UTSW	15	88,895,607 (GRCm39)	missense	possibly damaging	0.79
R2120:Mov10l1	UTSW	15	88,891,830 (GRCm39)	missense	probably benign	0.30
R3740:Mov10l1	UTSW	15	88,896,345 (GRCm39)	missense	possibly damaging	0.92
R3741:Mov10l1	UTSW	15	88,896,345 (GRCm39)	missense	possibly damaging	0.92
R3846:Mov10l1	UTSW	15	88,896,345 (GRCm39)	missense	possibly damaging	0.92
R3850:Mov10l1	UTSW	15	88,889,898 (GRCm39)	critical splice acceptor site	probably null
R3964:Mov10l1	UTSW	15	88,896,366 (GRCm39)	missense	probably benign	0.00
R3965:Mov10l1	UTSW	15	88,896,366 (GRCm39)	missense	probably benign	0.00
R4049:Mov10l1	UTSW	15	88,879,235 (GRCm39)	splice site	probably benign
R4836:Mov10l1	UTSW	15	88,904,472 (GRCm39)	missense	possibly damaging	0.47
R5233:Mov10l1	UTSW	15	88,867,235 (GRCm39)	missense	probably benign
R5466:Mov10l1	UTSW	15	88,869,904 (GRCm39)	critical splice donor site	probably null
R5552:Mov10l1	UTSW	15	88,938,569 (GRCm39)	critical splice donor site	probably null
R5780:Mov10l1	UTSW	15	88,896,181 (GRCm39)	missense	probably benign
R6275:Mov10l1	UTSW	15	88,910,823 (GRCm39)	missense	probably damaging	0.99
R6326:Mov10l1	UTSW	15	88,879,098 (GRCm39)	missense	probably damaging	1.00
R6652:Mov10l1	UTSW	15	88,878,105 (GRCm39)	missense	probably damaging	1.00
R6793:Mov10l1	UTSW	15	88,880,387 (GRCm39)	missense	possibly damaging	0.86
R7278:Mov10l1	UTSW	15	88,878,071 (GRCm39)	missense	probably benign	0.18
R7733:Mov10l1	UTSW	15	88,909,004 (GRCm39)	missense	probably damaging	0.99
R7998:Mov10l1	UTSW	15	88,937,642 (GRCm39)	missense	probably damaging	1.00
R8260:Mov10l1	UTSW	15	88,896,313 (GRCm39)	missense	probably benign
R8426:Mov10l1	UTSW	15	88,881,608 (GRCm39)	critical splice donor site	probably null
R8855:Mov10l1	UTSW	15	88,896,169 (GRCm39)	missense	probably benign	0.13
R8866:Mov10l1	UTSW	15	88,896,169 (GRCm39)	missense	probably benign	0.13
R9154:Mov10l1	UTSW	15	88,896,118 (GRCm39)	missense	possibly damaging	0.72
R9164:Mov10l1	UTSW	15	88,896,361 (GRCm39)	missense	probably benign	0.00
R9194:Mov10l1	UTSW	15	88,931,023 (GRCm39)	missense	probably damaging	1.00
R9353:Mov10l1	UTSW	15	88,872,622 (GRCm39)	missense	possibly damaging	0.70
R9470:Mov10l1	UTSW	15	88,904,518 (GRCm39)	missense	probably damaging	1.00
Z1177:Mov10l1	UTSW	15	88,937,614 (GRCm39)	missense	probably damaging	0.99
Z1177:Mov10l1	UTSW	15	88,902,371 (GRCm39)	missense	probably damaging	0.99
Z1177:Mov10l1	UTSW	15	88,880,339 (GRCm39)	missense	probably benign	0.36

Predicted Primers

PCR Primer
(F):5'- TGGACCAGCAAGCAACCATGAG -3'
(R):5'- GCCCACTGTGTAGCTGAGTTGTATC -3'

Sequencing Primer
(F):5'- tgtggaggtgtctgtggag -3'
(R):5'- GCTGAGTTGTATCACAATACAGAGC -3'

Posted On

2013-11-08